Increased aneuploidy rates in spermatozoa of a male carrier of a trisomy 18 mosaicism
Semen analysis of a 31-year-old infertile man showed a severe oligoteratozoospermia. Karyotyping of peripheral blood lymphocytes showed a 47,XY,+18[13]/46,XY[16] mosaicism. Cultured skin fibroblasts, right and left jugal smears showed 3, 50 and 65% trisomic cells respectively. The aim of the study w...
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| Veröffentlicht in: | International journal of andrology 2009-06, Vol.32 (3), p.231-234 |
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| creator | Perrin, A Douet-Guilbert, N Le Bris, M.J May-Panloup, P Guichet, A Amice, V Amice, J De Braekeleer, M Morel, F |
| description | Semen analysis of a 31-year-old infertile man showed a severe oligoteratozoospermia. Karyotyping of peripheral blood lymphocytes showed a 47,XY,+18[13]/46,XY[16] mosaicism. Cultured skin fibroblasts, right and left jugal smears showed 3, 50 and 65% trisomic cells respectively. The aim of the study was to evaluate the aneuploidy rates of chromosomes X, Y, 13, 18 and 21 and the diploidy rate in his spermatozoa by fluorescence in situ hybridization. The rate of disomy 18 was significantly increased in the spermatozoa of the patient (0.68%) compared to the control group (0.06%). A statistically significant difference in the rates of disomy for chromosome 13 (0.46% vs. 0.14%) and the gonosomes (0.78% vs. 0.24%) and diploidy (0.93% vs. 0.34%) was also found between the patient and the control group. However, no significant difference was observed for chromosome 21 (0.34% vs. 0.15%). Our results show evidence of a generalized perturbation of the meiotic mechanism that could lead to an increased risk for a mosaic trisomy 18 infertile male of producing offspring with aneuploidy that is not only on account of the father's mosaicism, but also more particularly because of severe oligoteratozoospermia. |
| doi_str_mv | 10.1111/j.1365-2605.2007.00840.x |
| format | Article |
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Karyotyping of peripheral blood lymphocytes showed a 47,XY,+18[13]/46,XY[16] mosaicism. Cultured skin fibroblasts, right and left jugal smears showed 3, 50 and 65% trisomic cells respectively. The aim of the study was to evaluate the aneuploidy rates of chromosomes X, Y, 13, 18 and 21 and the diploidy rate in his spermatozoa by fluorescence in situ hybridization. The rate of disomy 18 was significantly increased in the spermatozoa of the patient (0.68%) compared to the control group (0.06%). A statistically significant difference in the rates of disomy for chromosome 13 (0.46% vs. 0.14%) and the gonosomes (0.78% vs. 0.24%) and diploidy (0.93% vs. 0.34%) was also found between the patient and the control group. However, no significant difference was observed for chromosome 21 (0.34% vs. 0.15%). Our results show evidence of a generalized perturbation of the meiotic mechanism that could lead to an increased risk for a mosaic trisomy 18 infertile male of producing offspring with aneuploidy that is not only on account of the father's mosaicism, but also more particularly because of severe oligoteratozoospermia.</description><identifier>ISSN: 0105-6263</identifier><identifier>EISSN: 1365-2605</identifier><identifier>DOI: 10.1111/j.1365-2605.2007.00840.x</identifier><identifier>PMID: 18217987</identifier><identifier>CODEN: IJANDP</identifier><language>eng</language><publisher>Oxford, UK: Oxford, UK : Blackwell Publishing Ltd</publisher><subject>Aneuploidy ; Biological and medical sciences ; Birth control ; Chromosome aberrations ; Chromosomes, Human, Pair 13 - genetics ; Chromosomes, Human, Pair 18 - genetics ; Chromosomes, Human, Pair 21 - genetics ; Chromosomes, Human, X - genetics ; Chromosomes, Human, Y - genetics ; fluorescence in situ hybridization ; Fundamental and applied biological sciences. Psychology ; Gynecology. Andrology. Obstetrics ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Male genital diseases ; male infertility ; Mammalian male genital system ; Medical genetics ; Medical sciences ; Meiosis ; mosaic trisomy 18 ; Mosaicism ; Oligospermia - genetics ; Semen Analysis ; Spermatozoa ; Sterility. Assisted procreation ; Trisomy ; Vertebrates: reproduction</subject><ispartof>International journal of andrology, 2009-06, Vol.32 (3), p.231-234</ispartof><rights>2008 The Authors. Journal compilation © 2008 European Academy of Andrology</rights><rights>2009 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c5410-968096dd1e2335339a5036a379c5edcc8ccd54192ae8320e016823e9d6ebcae63</citedby><cites>FETCH-LOGICAL-c5410-968096dd1e2335339a5036a379c5edcc8ccd54192ae8320e016823e9d6ebcae63</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fj.1365-2605.2007.00840.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1365-2605.2007.00840.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,1433,27924,27925,45574,45575,46409,46833</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=21421337$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18217987$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Perrin, A</creatorcontrib><creatorcontrib>Douet-Guilbert, N</creatorcontrib><creatorcontrib>Le Bris, M.J</creatorcontrib><creatorcontrib>May-Panloup, P</creatorcontrib><creatorcontrib>Guichet, A</creatorcontrib><creatorcontrib>Amice, V</creatorcontrib><creatorcontrib>Amice, J</creatorcontrib><creatorcontrib>De Braekeleer, M</creatorcontrib><creatorcontrib>Morel, F</creatorcontrib><title>Increased aneuploidy rates in spermatozoa of a male carrier of a trisomy 18 mosaicism</title><title>International journal of andrology</title><addtitle>Int J Androl</addtitle><description>Semen analysis of a 31-year-old infertile man showed a severe oligoteratozoospermia. Karyotyping of peripheral blood lymphocytes showed a 47,XY,+18[13]/46,XY[16] mosaicism. Cultured skin fibroblasts, right and left jugal smears showed 3, 50 and 65% trisomic cells respectively. The aim of the study was to evaluate the aneuploidy rates of chromosomes X, Y, 13, 18 and 21 and the diploidy rate in his spermatozoa by fluorescence in situ hybridization. The rate of disomy 18 was significantly increased in the spermatozoa of the patient (0.68%) compared to the control group (0.06%). A statistically significant difference in the rates of disomy for chromosome 13 (0.46% vs. 0.14%) and the gonosomes (0.78% vs. 0.24%) and diploidy (0.93% vs. 0.34%) was also found between the patient and the control group. However, no significant difference was observed for chromosome 21 (0.34% vs. 0.15%). Our results show evidence of a generalized perturbation of the meiotic mechanism that could lead to an increased risk for a mosaic trisomy 18 infertile male of producing offspring with aneuploidy that is not only on account of the father's mosaicism, but also more particularly because of severe oligoteratozoospermia.</description><subject>Aneuploidy</subject><subject>Biological and medical sciences</subject><subject>Birth control</subject><subject>Chromosome aberrations</subject><subject>Chromosomes, Human, Pair 13 - genetics</subject><subject>Chromosomes, Human, Pair 18 - genetics</subject><subject>Chromosomes, Human, Pair 21 - genetics</subject><subject>Chromosomes, Human, X - genetics</subject><subject>Chromosomes, Human, Y - genetics</subject><subject>fluorescence in situ hybridization</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Male</subject><subject>Male genital diseases</subject><subject>male infertility</subject><subject>Mammalian male genital system</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Meiosis</subject><subject>mosaic trisomy 18</subject><subject>Mosaicism</subject><subject>Oligospermia - genetics</subject><subject>Semen Analysis</subject><subject>Spermatozoa</subject><subject>Sterility. Assisted procreation</subject><subject>Trisomy</subject><subject>Vertebrates: reproduction</subject><issn>0105-6263</issn><issn>1365-2605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkU-PEyEYh4nRuLX6FZSLepqRPwPDHDzsbta1ZrMetOqNvMu8NdSZUmGabf30Mk5Tb0Y4QOD5wcsDIZSzkuf2Zl1yqVUhNFOlYKwuGTMVK_cPyOy08ZDMGGeq0ELLM_IkpTVjTBrJH5MzbgSvG1PPyHKxcREhYUthg7ttF3x7oBEGTNRvaNpi7GEIvwLQsKJAe-iQOojRY5xWhuhT6A-UG9qHBN751D8lj1bQJXx2HOdk-e7q8-X74ubj9eLy_KZwquKsaLRhjW5bjkJKJWUDikkNsm6cwtY541ybwUYAGikYMq6NkNi0Gu8coJZz8no6dxvDzx2mwfY-Oey6_JawS7auVCNyH8lX_yR1LbkSuYg5MRPoYkgp4spuo-8hHixndpRv13Z0bEfHdpRv_8i3-xx9frxjd9dj-zd4tJ2Bl0cAkoNuFWGTbZ04wSvBpRy5txN37zs8_HcBdvHh_DbPcr6Y8j4NuD_lIf4Y31kr-_X22nJ9cSHZl8p-y_yLiV9BsPA9f6hdfhKMyyxcZDG1_A02VLZx</recordid><startdate>200906</startdate><enddate>200906</enddate><creator>Perrin, A</creator><creator>Douet-Guilbert, N</creator><creator>Le Bris, M.J</creator><creator>May-Panloup, P</creator><creator>Guichet, A</creator><creator>Amice, V</creator><creator>Amice, J</creator><creator>De Braekeleer, M</creator><creator>Morel, F</creator><general>Oxford, UK : Blackwell Publishing Ltd</general><general>Blackwell Publishing Ltd</general><general>Blackwell</general><scope>FBQ</scope><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>200906</creationdate><title>Increased aneuploidy rates in spermatozoa of a male carrier of a trisomy 18 mosaicism</title><author>Perrin, A ; Douet-Guilbert, N ; Le Bris, M.J ; May-Panloup, P ; Guichet, A ; Amice, V ; Amice, J ; De Braekeleer, M ; Morel, F</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c5410-968096dd1e2335339a5036a379c5edcc8ccd54192ae8320e016823e9d6ebcae63</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Aneuploidy</topic><topic>Biological and medical sciences</topic><topic>Birth control</topic><topic>Chromosome aberrations</topic><topic>Chromosomes, Human, Pair 13 - genetics</topic><topic>Chromosomes, Human, Pair 18 - genetics</topic><topic>Chromosomes, Human, Pair 21 - genetics</topic><topic>Chromosomes, Human, X - genetics</topic><topic>Chromosomes, Human, Y - genetics</topic><topic>fluorescence in situ hybridization</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Male</topic><topic>Male genital diseases</topic><topic>male infertility</topic><topic>Mammalian male genital system</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Meiosis</topic><topic>mosaic trisomy 18</topic><topic>Mosaicism</topic><topic>Oligospermia - genetics</topic><topic>Semen Analysis</topic><topic>Spermatozoa</topic><topic>Sterility. Assisted procreation</topic><topic>Trisomy</topic><topic>Vertebrates: reproduction</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Perrin, A</creatorcontrib><creatorcontrib>Douet-Guilbert, N</creatorcontrib><creatorcontrib>Le Bris, M.J</creatorcontrib><creatorcontrib>May-Panloup, P</creatorcontrib><creatorcontrib>Guichet, A</creatorcontrib><creatorcontrib>Amice, V</creatorcontrib><creatorcontrib>Amice, J</creatorcontrib><creatorcontrib>De Braekeleer, M</creatorcontrib><creatorcontrib>Morel, F</creatorcontrib><collection>AGRIS</collection><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>International journal of andrology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Perrin, A</au><au>Douet-Guilbert, N</au><au>Le Bris, M.J</au><au>May-Panloup, P</au><au>Guichet, A</au><au>Amice, V</au><au>Amice, J</au><au>De Braekeleer, M</au><au>Morel, F</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Increased aneuploidy rates in spermatozoa of a male carrier of a trisomy 18 mosaicism</atitle><jtitle>International journal of andrology</jtitle><addtitle>Int J Androl</addtitle><date>2009-06</date><risdate>2009</risdate><volume>32</volume><issue>3</issue><spage>231</spage><epage>234</epage><pages>231-234</pages><issn>0105-6263</issn><eissn>1365-2605</eissn><coden>IJANDP</coden><abstract>Semen analysis of a 31-year-old infertile man showed a severe oligoteratozoospermia. Karyotyping of peripheral blood lymphocytes showed a 47,XY,+18[13]/46,XY[16] mosaicism. Cultured skin fibroblasts, right and left jugal smears showed 3, 50 and 65% trisomic cells respectively. The aim of the study was to evaluate the aneuploidy rates of chromosomes X, Y, 13, 18 and 21 and the diploidy rate in his spermatozoa by fluorescence in situ hybridization. The rate of disomy 18 was significantly increased in the spermatozoa of the patient (0.68%) compared to the control group (0.06%). A statistically significant difference in the rates of disomy for chromosome 13 (0.46% vs. 0.14%) and the gonosomes (0.78% vs. 0.24%) and diploidy (0.93% vs. 0.34%) was also found between the patient and the control group. However, no significant difference was observed for chromosome 21 (0.34% vs. 0.15%). Our results show evidence of a generalized perturbation of the meiotic mechanism that could lead to an increased risk for a mosaic trisomy 18 infertile male of producing offspring with aneuploidy that is not only on account of the father's mosaicism, but also more particularly because of severe oligoteratozoospermia.</abstract><cop>Oxford, UK</cop><pub>Oxford, UK : Blackwell Publishing Ltd</pub><pmid>18217987</pmid><doi>10.1111/j.1365-2605.2007.00840.x</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Aneuploidy Biological and medical sciences Birth control Chromosome aberrations Chromosomes, Human, Pair 13 - genetics Chromosomes, Human, Pair 18 - genetics Chromosomes, Human, Pair 21 - genetics Chromosomes, Human, X - genetics Chromosomes, Human, Y - genetics fluorescence in situ hybridization Fundamental and applied biological sciences. Psychology Gynecology. Andrology. Obstetrics Humans In Situ Hybridization, Fluorescence Male Male genital diseases male infertility Mammalian male genital system Medical genetics Medical sciences Meiosis mosaic trisomy 18 Mosaicism Oligospermia - genetics Semen Analysis Spermatozoa Sterility. Assisted procreation Trisomy Vertebrates: reproduction |
| title | Increased aneuploidy rates in spermatozoa of a male carrier of a trisomy 18 mosaicism |
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